Varaico: Literature-Extracted Genetic Variants

PTPRC

1,024 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

PTP_Naa 7–32UCSCProtein tyrosine phosphatase N terminal

CD45aa 237–295UCSCLeukocyte receptor CD45

fn3aa 483–568UCSCFibronectin type III domain

Y_phosphataseaa 677–911UCSCProtein-tyrosine phosphatase

Y_phosphataseaa 968–1227UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase receptor type C

HGNC Previous Symbol

CD45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_002838.5

p.D123H

c.367G>C

Surrounding Variants

1 paper

NM_002838.5

p.T124A

c.370A>G

1 paper

NM_002838.5

p.T126P

c.376A>C

1 paper

NM_002838.5

p.T126S

c.376A>T

2 papers

NM_002838.5

p.T126I

c.377C>T

1 paper

NM_002838.5

p.S128G

c.382A>G

1 paper

NM_002838.5

p.H112D

c.334C>G

1 paper

NM_002838.5

p.A134delFs

c.401delC

1 paper

NM_002838.5

p.A134fs

c.400_401fs

1 paper

NM_002838.5

p.A134_L136delFs

c.401_407del7

1 paper

NM_002838.5

p.T111K

c.332C>A

1 paper

NM_002838.5

p.K135I

c.404A>T

1 paper

NM_002838.5

p.P110L

c.329C>T